Linked Data
ClinVar Variation Id:
1635212
ClinVar RCV Id:
RCV002133275
dbSNP Id:
rs550301756
ExAC:
19:45525376 T / A
gnomAD v2:
19-45525376-T-A
gnomAD v3:
19-45022118-T-A
gnomAD v4:
19-45022118-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45022118T>A , CM000681.2:g.45022118T>A | GRCh38 |
| NC_000019.9:g.45525376T>A , CM000681.1:g.45525376T>A | GRCh37 |
| NC_000019.8:g.50217216T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505236.2:c.561T>A | ENSP00000423287.1:p.Pro187= | |
| ENST00000700471.1:c.343-3211T>A | ENSP00000515004.1:n.343-3211T>A | |
| ENST00000221452.13:c.570T>A MANE Select | ENSP00000221452.7:p.Pro190= | |
| ENST00000221452.12:c.570T>A | ENSP00000221452.7:p.Pro190= | |
| ENST00000505236.1:c.561T>A | ENSP00000423287.1:p.Pro187= | |
| ENST00000510184.1:n.289T>A | ||
| ENST00000625761.2:c.570T>A | ENSP00000485826.1:p.Pro190= | |
| NM_006509.3:c.570T>A | NP_006500.2:p.Pro190= | |
| XM_005259127.2:c.561T>A | XP_005259184.1:p.Pro187= | |
| XM_005259128.2:c.570T>A | XP_005259185.1:p.Pro190= | |
| XM_005259127.3:c.561T>A | XP_005259184.1:p.Pro187= | |
| NM_006509.4:c.570T>A MANE Select | NP_006500.2:p.Pro190= |